Variant report

Variant	rs72909178
Chromosome Location	chr2:74335789-74335790
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:74335555..74337935-chr2:74348747..74350804,2	MCF-7	breast:
2	chr2:74335291..74341165-chr2:74346061..74348984,7	K562	blood:
3	chr2:74331300..74332894-chr2:74335535..74338121,2	MCF-7	breast:
4	chr2:74335713..74338068-chr2:74339184..74340724,2	MCF-7	breast:
5	chr2:74334291..74335932-chr2:74618806..74620768,2	K562	blood:
6	chr2:74210336..74213220-chr2:74335043..74337210,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000204843	Chromatin interaction
ENSG00000257800	Chromatin interaction
ENSG00000235499	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17009632	0.94[EUR][1000 genomes]
rs41285981	0.94[EUR][1000 genomes]
rs41285983	0.94[EUR][1000 genomes]
rs57498180	0.94[EUR][1000 genomes]
rs59253442	0.94[EUR][1000 genomes]
rs61120808	0.94[EUR][1000 genomes]
rs6731282	0.81[AMR][1000 genomes]
rs72909198	0.94[EUR][1000 genomes]
rs72915079	0.94[EUR][1000 genomes]
rs72915085	0.94[EUR][1000 genomes]
rs828894	0.94[EUR][1000 genomes]
rs828895	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874284	chr2:74283728-74348797	Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv874285	chr2:74283728-74355244	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv874286	chr2:74323500-74436721	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74308400-74336200	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr2:74322200-74346600	Weak transcription	Hela-S3	cervix
3	chr2:74328400-74336000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr2:74328400-74339000	Weak transcription	K562	blood
5	chr2:74328600-74339400	Weak transcription	Stomach Mucosa	stomach
6	chr2:74329600-74347000	Weak transcription	HSMMtube	muscle
7	chr2:74330000-74336000	Weak transcription	Colonic Mucosa	Colon
8	chr2:74330200-74347000	Weak transcription	Aorta	Aorta
9	chr2:74330400-74335800	Weak transcription	Thymus	Thymus
10	chr2:74330400-74338000	Weak transcription	Left Ventricle	heart
11	chr2:74330400-74346800	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr2:74330600-74341000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:74330600-74341200	Weak transcription	Spleen	Spleen
14	chr2:74330600-74346600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr2:74330600-74347000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:74330600-74347000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr2:74330600-74347000	Weak transcription	Pancreas	Pancrea
18	chr2:74330800-74346800	Weak transcription	Brain Hippocampus Middle	brain
19	chr2:74330800-74347000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr2:74331000-74338800	Weak transcription	Brain Substantia Nigra	brain
21	chr2:74331000-74340400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr2:74331200-74336000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr2:74331200-74338800	Weak transcription	Primary B cells from cord blood	blood
24	chr2:74331200-74347200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:74332000-74342000	Weak transcription	Fetal Muscle Trunk	muscle
26	chr2:74332000-74346400	Weak transcription	Dnd41	blood
27	chr2:74332000-74346800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:74332200-74335800	Weak transcription	Brain Germinal Matrix	brain
29	chr2:74332400-74336400	Weak transcription	Fetal Intestine Small	intestine
30	chr2:74332400-74336800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr2:74332400-74338200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:74332600-74339600	Weak transcription	Fetal Intestine Large	intestine
33	chr2:74332600-74346400	Weak transcription	GM12878-XiMat	blood
34	chr2:74332600-74347000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr2:74332600-74347000	Weak transcription	Esophagus	oesophagus
36	chr2:74332800-74346800	Weak transcription	NHEK	skin
37	chr2:74333000-74336600	Weak transcription	Stomach Smooth Muscle	stomach
38	chr2:74333000-74346800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr2:74333200-74337600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:74333200-74346800	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr2:74333200-74347000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:74333400-74338600	Weak transcription	Fetal Brain Female	brain
43	chr2:74333600-74338800	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr2:74333600-74339000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:74333600-74346600	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr2:74333800-74336600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr2:74333800-74338400	Weak transcription	Lung	lung
48	chr2:74333800-74338800	Weak transcription	Fetal Stomach	stomach
49	chr2:74334400-74338800	Weak transcription	Gastric	stomach
50	chr2:74334600-74335800	Enhancers	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links